Canonical Allele Identifier: CA16617908
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 418839
ClinVar RCV Id: RCV000485634
dbSNP Id: rs1064793469

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37020429del , CM000665.2:g.37020429del GRCh38
NC_000003.11:g.37061920del , CM000665.1:g.37061920del GRCh37
NC_000003.10:g.37036924del NCBI36
NG_007109.2:g.32080del , LRG_216:g.32080del

Transcript Alleles

HGVS Amino-acid change
ENST00000231790.8:c.1004del MANE Select ENSP00000231790.3:p.Leu335ArgfsTer?
ENST00000413212.2:c.68-5208del ENSP00000400844.2:p.=
ENST00000432299.6:c.*871-5208del ENSP00000416783.1:p.=
ENST00000441265.6:c.281del ENSP00000398392.2:p.Leu94ArgfsTer?
ENST00000442249.6:n.812del
ENST00000447829.6:c.*115del ENSP00000399329.2:p.=
ENST00000539477.6:c.281del ENSP00000443665.1:p.Leu94ArgfsTer?
ENST00000616768.5:n.41del ENSP00000480669.2:p.Leu14ArgfsTer?
ENST00000673673.1:n.957del
ENST00000673713.1:n.1035del
ENST00000673715.1:c.1004del ENSP00000501301.1:p.Leu335ArgfsTer?
ENST00000673889.1:n.386del
ENST00000673897.1:c.*796del ENSP00000501109.1:p.=
ENST00000673899.1:c.677+8330del ENSP00000501030.1:p.=
ENST00000673947.1:c.*1144del ENSP00000501304.1:p.=
ENST00000673972.1:c.*882del ENSP00000501281.1:p.=
ENST00000673990.1:n.895del
ENST00000674019.1:c.281del ENSP00000501081.1:p.Leu94ArgfsTer?
ENST00000674107.1:n.852del
ENST00000674111.1:c.1004del ENSP00000501162.1:p.Leu335ArgfsTer?
ENST00000231790.6:c.1004del ENSP00000231790.2:p.Leu335ArgfsTer?
ENST00000413212.1:n.114-5208del
ENST00000435176.5:c.710del ENSP00000402564.1:p.Leu237ArgfsTer?
ENST00000441265.5:c.281del ENSP00000398392.1:p.Leu94ArgfsTer?
ENST00000447829.5:n.291del
ENST00000455445.6:c.281del ENSP00000398272.2:p.Leu94ArgfsTer?
ENST00000456676.6:n.979del
ENST00000458009.5:n.225+2830del
ENST00000458205.6:c.281del ENSP00000402667.2:p.Leu94ArgfsTer?
ENST00000536378.5:c.281del ENSP00000444286.2:p.Leu94ArgfsTer?
ENST00000539477.5:c.281del ENSP00000443665.1:p.Leu94ArgfsTer?
NM_000249.3:c.1004del , LRG_216t1:c.1004del NP_000240.1:p.Leu335ArgfsTer?
NM_001167617.1:c.710del NP_001161089.1:p.Leu237ArgfsTer?
NM_001167618.1:c.281del NP_001161090.1:p.Leu94ArgfsTer?
NM_001167619.1:c.281del NP_001161091.1:p.Leu94ArgfsTer?
NM_001258271.1:c.1004del NP_001245200.1:p.Leu335ArgfsTer?
NM_001258273.1:c.281del NP_001245202.1:p.Leu94ArgfsTer?
NM_001258274.1:c.281del NP_001245203.1:p.Leu94ArgfsTer?
XM_005265161.1:c.797del XP_005265218.1:p.Leu266ArgfsTer?
XM_005265163.1:c.281del XP_005265220.1:p.Leu94ArgfsTer?
XM_005265164.1:c.281del XP_005265221.1:p.Leu94ArgfsTer?
XM_005265166.1:c.-20del XP_005265223.1:p.=
XM_011533727.1:c.-36-5208del XP_011532029.1:p.=
NM_001167617.2:c.710del NP_001161089.1:p.Leu237ArgfsTer?
NM_001167618.2:c.281del NP_001161090.1:p.Leu94ArgfsTer?
NM_001167619.2:c.281del NP_001161091.1:p.Leu94ArgfsTer?
NM_001258274.2:c.281del NP_001245203.1:p.Leu94ArgfsTer?
NM_001354615.1:c.281del NP_001341544.1:p.Leu94ArgfsTer?
NM_001354616.1:c.281del NP_001341545.1:p.Leu94ArgfsTer?
NM_001354617.1:c.281del NP_001341546.1:p.Leu94ArgfsTer?
NM_001354618.1:c.281del NP_001341547.1:p.Leu94ArgfsTer?
NM_001354619.1:c.281del NP_001341548.1:p.Leu94ArgfsTer?
NM_001354620.1:c.710del NP_001341549.1:p.Leu237ArgfsTer?
NM_001354621.1:c.-20del NP_001341550.1:p.=
NM_001354622.1:c.-20del NP_001341551.1:p.=
NM_001354623.1:c.-20del NP_001341552.1:p.=
NM_001354624.1:c.-36-5208del NP_001341553.1:p.=
NM_001354625.1:c.-36-5208del NP_001341554.1:p.=
NM_001354626.1:c.-36-5208del NP_001341555.1:p.=
NM_001354627.1:c.-36-5208del NP_001341556.1:p.=
NM_001354628.1:c.1004del NP_001341557.1:p.Leu335ArgfsTer?
NM_001354629.1:c.905del NP_001341558.1:p.Leu302ArgfsTer?
NM_001354630.1:c.1004del NP_001341559.1:p.Leu335ArgfsTer?
XM_005265161.2:c.797del XP_005265218.1:p.Leu266ArgfsTer?
XM_017006450.2:c.-20del XP_016861939.1:p.=
NM_000249.4:c.1004del MANE Select NP_000240.1:p.Leu335ArgfsTer?
NM_001167617.3:c.710del NP_001161089.1:p.Leu237ArgfsTer?
NM_001167618.3:c.281del NP_001161090.1:p.Leu94ArgfsTer?
NM_001167619.3:c.281del NP_001161091.1:p.Leu94ArgfsTer?
NM_001258271.2:c.1004del NP_001245200.1:p.Leu335ArgfsTer?
NM_001258273.2:c.281del NP_001245202.1:p.Leu94ArgfsTer?
NM_001258274.3:c.281del NP_001245203.1:p.Leu94ArgfsTer?
NM_001354615.2:c.281del NP_001341544.1:p.Leu94ArgfsTer?
NM_001354616.2:c.281del NP_001341545.1:p.Leu94ArgfsTer?
NM_001354617.2:c.281del NP_001341546.1:p.Leu94ArgfsTer?
NM_001354618.2:c.281del NP_001341547.1:p.Leu94ArgfsTer?
NM_001354619.2:c.281del NP_001341548.1:p.Leu94ArgfsTer?
NM_001354620.2:c.710del NP_001341549.1:p.Leu237ArgfsTer?
NM_001354621.2:c.-20del NP_001341550.1:p.=
NM_001354622.2:c.-20del NP_001341551.1:p.=
NM_001354623.2:c.-20del NP_001341552.1:p.=
NM_001354624.2:c.-36-5208del NP_001341553.1:p.=
NM_001354625.2:c.-36-5208del NP_001341554.1:p.=
NM_001354626.2:c.-36-5208del NP_001341555.1:p.=
NM_001354627.2:c.-36-5208del NP_001341556.1:p.=
NM_001354628.2:c.1004del NP_001341557.1:p.Leu335ArgfsTer?
NM_001354629.2:c.905del NP_001341558.1:p.Leu302ArgfsTer?
NM_001354630.2:c.1004del NP_001341559.1:p.Leu335ArgfsTer?